A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505642



Internal ID282410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:54249854..54250598hg38UCSC Ensembl
chr12:54643638..54644382hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38745
hg19745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057581
Samples
Known GenesCBX5
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505642
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer